Canonical Allele Identifier: CA389620948
Gene: MGAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1259487704
gnomAD v4: 14-49622168-C-G
MyVariant Identifiers: chr14:g.50088886C>G (hg19) chr14:g.49622168C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49622168C>G , CM000676.2:g.49622168C>G GRCh38
NC_000014.8:g.50088886C>G , CM000676.1:g.50088886C>G GRCh37
NC_000014.7:g.49158636C>G NCBI36
NG_008920.1:g.6398C>G
NG_033054.1:g.3464G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.900C>G MANE Select ENSP00000307423.2:p.Phe300Leu
ENST00000305386.3:c.900C>G ENSP00000307423.2:p.Phe300Leu
NM_002408.3:c.900C>G NP_002399.1:p.Phe300Leu
NM_002408.4:c.900C>G MANE Select NP_002399.1:p.Phe300Leu
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